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Publications by David P. Bick
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Nasal Embryonic LHRH Factor (NELF) Mutations in Patients With Normosmic Hypogonadotropic Hypogonadism and Kallmann Syndrome
Fertility and Sterility
Gynecology
Reproductive Medicine
Obstetrics
Recurrent ACADVL Molecular Findings in Individuals With a Positive Newborn Screen for Very Long Chain Acyl-coA Dehydrogenase (VLCAD) Deficiency in the United States
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
